SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS61745653 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS61745707 ALDH6A1 Health Risk Conflicting classifications of pathogenicity Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS61745752 GPR68 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta, hypomaturation type
RS61745803 CSNK2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61745877 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS61745973 SNIP1 Health Risk Conflicting classifications of pathogenicity SNIP1-related disorder, SNIP1-related disorder
RS61746008 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS61746119 DONSON Health Risk Conflicting classifications of pathogenicity —
RS61746139 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS61746197 - Health Risk Conflicting classifications of pathogenicity Radial aplasia-thrombocytopenia syndrome, GPR89B-related condition
RS61746297 ANO3 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonia 24
RS61746358 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS61746359 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS61746426 NEK9 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, Perthes disease
RS61746533 ERCC6L2 Health Risk Conflicting classifications of pathogenicity ERCC6L2-related disorder, Inborn genetic diseases
RS61746582 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH9-related disorder
RS61746591 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS61746596 ALKBH8 Health Risk Conflicting classifications of pathogenicity ALKBH8-related disorder, ALKBH8-related disorder
RS61746642 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS61746653 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS61746686 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS61746816 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS61746928 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS61747068 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS61747281 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS61747283 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS61747284 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61747288 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Sneddon syndrome
RS61747367 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS61747461 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS61747592 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS61747607 GNB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Clear cell carcinoma of kidney
RS61747625 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS61747635 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS61747727 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS61747728 NPHS2 Health Risk Conflicting classifications of pathogenicity Proteinuria, Nephrotic syndrome
RS61748081 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS61748083 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS61748106 UBA5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 44
RS61748123 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS61748127 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS61748158 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS61748230 RIF1 Health Risk Conflicting classifications of pathogenicity —
RS61748364 FGD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS61748373 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS61748383 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Inborn genetic diseases
RS61748384 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61748389 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61748390 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61748391 MECP2 Health Risk Pathogenic Rett syndrome, Inborn genetic diseases
RS61748392 MECP2 Health Risk Pathogenic/Likely pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61748393 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61748395 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61748396 MECP2 Health Risk Pathogenic Atypical Rett syndrome, Angelman syndrome
RS61748398 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61748399 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61748400 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61748402 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61748403 MECP2 Health Risk Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61748404 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61748406 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61748407 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61748408 MECP2 Health Risk Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61748410 MECP2 Health Risk Likely pathogenic Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome
RS61748411 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61748414 MECP2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS61748415 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61748416 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61748417 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61748418 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61748420 MECP2 Health Risk Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome
RS61748421 MECP2 Health Risk Pathogenic Rett syndrome, Intellectual disability
RS61748425 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61748426 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases
RS61748428 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61748429 PRPH2 Health Risk Pathogenic Patterned macular dystrophy 1, Retinal dystrophy
RS61748430 PRPH2 Health Risk Pathogenic/Likely pathogenic Adult-onset foveomacular vitelliform dystrophy, Vitelliform macular dystrophy 2
RS61748432 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Choroidal dystrophy
RS61748433 PRPH2 Health Risk Pathogenic Retinitis pigmentosa 7, PRPH2-related disorder
RS61748434 PRPH2 Health Risk Conflicting classifications of pathogenicity Adult-onset foveomacular vitelliform dystrophy, Patterned macular dystrophy 1
RS61748436 CRX Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS61748437 CRX Health Risk Likely pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS61748442 CRX Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 7
RS61748444 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS61748446 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS61748449 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS61748451 CRX Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 2
RS61748452 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS61748455 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS61748460 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61748462 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61748463 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61748464 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61748465 VWF Health Risk Pathogenic/Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61748466 VWF Health Risk Likely pathogenic von Willebrand disease type 2, von Willebrand disease type 3
RS61748467 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS61748476 VWF Health Risk Pathogenic —
RS61748477 VWF Health Risk Pathogenic von Willebrand disease type 2N, Abnormal bleeding
RS61748478 VWF Health Risk Pathogenic von Willebrand disease type 2N, von Willebrand disease type 2N
RS61748480 VWF Health Risk Pathogenic/Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
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